Group | Phenotype (age (years)) | n | Percentage of cohort | Pt ID | Mutation | Type of mutations | Presentation (age (years)) | Follow-up (age (years)) |
---|---|---|---|---|---|---|---|---|
(1) Early lethal | ||||||||
(1a) | (Post)neonatal death (<0.5) | 25 | 62.5 | (cf online supplementary table S1) | (cf online supplementary table S1) | 9 null/null 3 null/other 13 other/other | RDS (neonatal) | Dead (median 0.19, 0–0.32) |
(1b) | Death early childhood (0.5–5) | 5 | 12.5 | 4 | p.W308R p.W308R | Other/other | RDS (neonatal) | LTX (1.5, stable 3.3) |
19 | p.delEx16 p.delEx16 | Null/null | RDS (neonatal) | LTX (1.5, dead 4.1) | ||||
24 | p.P193S p.G1412R | Other/other | RDS (neonatal) | LTX (0.6, dead 0.7) | ||||
27 | p.R43C p.R208W | Other/other | Cough, failure to thrive (0.9) | Dead (4.5) | ||||
28 | p.P32S p.G1314E | Other/other | Cough, failure to thrive, cyanosis (0.5) | Dead (3.6) | ||||
(2) Prolonged survival | ||||||||
Prolonged survival (>5) | 7 | 17.5 | 37 | p.E292V p.E765X | Null/other | RDS (neonatal) | Sick-better (7) | |
32 | p.D953H p.F1077I | Other/other | Hypoxaemia, clubbing, mycoplasm pneumonia (2.2) | Sick-same (7.4) | ||||
35 | p.P969S p.D1439Gfs*11 | Null/other | 6 days RDS (neonatal), discharge day 11 | Sick-same (8.8) | ||||
11 | p.G964D p.G964D | Other/other | Cough, PAP (2) | Sick-same (16) | ||||
12 | p.G964D p.G964D | Other/other | Cough, dyspnoea (52) | Sick-same (57) | ||||
13 | p.G964D p.G964D | Other/other | None (52) | Sick-same (57) | ||||
31 | p.R709W p.I1193M | Other/other | dyspnoea at exercise, PAP (33) | Sick-same (36) | ||||
Patients with observation periods too short for definite allocation | ||||||||
likely group | ||||||||
(1a) or higher | 9 | p.Q1045R p.Q1045R | Other/other | RDS (neonatal) | sick-better (0.46) | |||
(1b) or higher | 23 | p.R208W c.3863-98C>T | Other/other | Gestational age 32 weeks, RDS (neonatal) | sick-same (2.7) | |||
(1b) or higher | 33 | p.Y963C p.E292V | Other/other | NA | sick-same (3) |
LTX, lung transplantation; NA, not available; PAP, pulmonary alveolar proteinosis; RDS, respiratory distress syndrome.